OMOP Concept 1245356

NRXN1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance

StandardConditionSNOMED1300131002Disorder
Maps from
0
Descendants
0
Valid from
1 Feb 2024
Valid to
31 Dec 2099
OMOP concepts

Concept Lookup Tool

Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.

Synonyms

Alternative names recorded for NRXN1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance across source vocabularies.

  • Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance
  • Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder)
  • NRXN1(neurexin 1) related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance
  • trastorno del neurodesarrollo grave, estereotipias motoras, estreñimiento crónico, alteración del ciclo sueño vigilia asociado a la neurexina 1
  • trastorno del neurodesarrollo grave, estereotipias motoras, estreñimiento crónico, alteración del ciclo sueño vigilia asociado a la neurexina 1 (trastorno)
  • Trastorno del neurodesarrollo grave, estereotipias motoras, estreñimiento crónico, alteración del ciclo sueño vigilia asociado al gen NRXN1 (neurexina 1)

Where it sits in the hierarchy

Ordered by distance - 1 is a direct parent or child.

Get this concept via the API

Resolve NRXN1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance - and every code that maps to it - over HTTPS, against the current vocabulary release. No downloads, no local database.

curl "https://api.omophub.com/v1/concepts/1245356?include_relationships=true" \
  -H "Authorization: Bearer $OMOPHUB_API_KEY"
Get your free API key3,000 calls/month free · no credit card